It has been reported that the mutations of VPS13A (OMIM *605978), VPS13B (OMIM *607817), and VPS13C (OMIM *608879) lead to chorea acanthocytosis (OMIM #200150), Cohen syndrome (OMIM #216550), and parkinsonism (OMIM #616840), respectively (Kolehmainen et al., 2003; Lesage et al., 2016; Rampoldi et al., 2001; Ueno et al., 2001). This evidence concerns the gene VPS13B and Cohen syndrome.